| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Prepair 1000+ v1.1 | SCN1B |
Crystle Lee gene: SCN1B was added gene: SCN1B was added to Prepair 1000+. Sources: Literature Mode of inheritance for gene: SCN1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCN1B were set to 36291443; 31709768 Phenotypes for gene: SCN1B were set to Developmental and epileptic encephalopathy 52, MIM#617350 Review for gene: SCN1B was set to AMBER Added comment: Bi-allelic variants cause EE/ID. Heterozygous variants linked to cardiac phenotypes and to GEFS+ Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||